Screening at the scope: enhancing the role of pathologists in diagnosing gastrointestinal polyposis syndromes

Only a minority of patients at high likelihood of a gastrointestinal polyposis syndrome (GPS) are appropriately referred for workup. This proof-of-concept study evaluates a GPS screening rubric based exclusively on information in prior pathology reports and intended to facilitate pathologist engagement in GPS screening and referral. We sought to (1) identify patients who would benefit from further GPS workup, (2) assign a probable polyposis syndrome category (adenomatous, hamartomatous, serrated, or mixed), and (3) suggest a specific syndrome, such as familial adenomatous polyposis, whenever possible. We retrospectively tested the rubric against the pathology records of 108 patients (median, 6 reports/patient) with an established clinical diagnosis of GPS (adenomatous (N = 88), hamartomatous (N = 18), and mixed (N = 2) polyposis syndromes). Records were reviewed chronologically (mean, 4.4 min/patient) by a GI pathologist blinded to clinical history. Ninety-five patients (88%) had a positive GPS screen (N = 76 with an adenomatous polyposis syndrome, N = 17 with a hamartomatous polyposis syndrome, N = 2 with a mixed polyposis syndrome); all were assigned to the correct syndrome category. In a subset of cases, the histopathologic record suggested a specific syndrome (correct in 28 of 30 instances). Of 13 patients with a negative screen (failure to meet any rubric parameters), N = 6 (46.2%) had incomplete records. These findings demonstrate that when robust records are available, structured review of pathology reports is a sensitive and efficient tool for the identification of patients with a high suspicion of a GPS. While prospective studies are necessary, pathologists are indeed well positioned to play an expanded role in GPS screening.